H00499 | |
H number | H00499 |
Name | Spondylocarpotarsal synostosis syndrome |
Description | Spondylocarpotarsal synostosis syndrome is an autosomal recessive disease characterized by the malsegmentation of vertebrae and the fusion of carpal and tarsal bones. Retinal anomalies and hearing loss are also observed. Spondylocarpotarsal synostosis syndrome is due to FLNB mutations. |
Category | Congenital malformation |
Network | - |
Gene | FLNB (nonsense mutation) [HSA:2317] [KO:K04437] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: LD24.3 ICD-10: Q76.4 MeSH: C535780 OMIM: 272460 |
Reference | PMID:18386804 AUTHORS Brunetti-Pierri N, Esposito V, De Brasi D, Mattiacci DM, Krakow D, Lee B, Salerno M TITLE Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations. JOURNAL Am J Med Genet A 146A:1230-3 (2008) DOI:10.1002/ajmg.a.32303 PMID:9557886 AUTHORS Coelho KE, Ramos ES, Felix TM, Martelli L, de Pina-Neto JM, Niikawa N TITLE Three new cases of spondylocarpotarsal synostosis syndrome: clinical and radiographic studies. JOURNAL Am J Med Genet 77:12-5 (1998) DOI:10.1002/(SICI)1096-8628(19980428)77:1<12::AID-AJMG3>3.0.CO;2-N |